Incidental Mutation 'IGL00849:Tbx19'
ID14392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx19
Ensembl Gene ENSMUSG00000026572
Gene NameT-box 19
SynonymsTpit, D1Ertd754e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #IGL00849
Quality Score
Status
Chromosome1
Chromosomal Location165137855-165160773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 165152040 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 187 (T187S)
Ref Sequence ENSEMBL: ENSMUSP00000027859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027859]
Predicted Effect probably benign
Transcript: ENSMUST00000027859
AA Change: T187S

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: T187S

DomainStartEndE-ValueType
TBOX 38 221 1.26e-114 SMART
low complexity region 263 275 N/A INTRINSIC
Blast:TBOX 343 410 2e-18 BLAST
low complexity region 424 443 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160350
Predicted Effect unknown
Transcript: ENSMUST00000161144
AA Change: T121S
SMART Domains Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: T121S

DomainStartEndE-ValueType
TBOX 1 156 4.56e-80 SMART
Blast:TBOX 215 282 5e-19 BLAST
low complexity region 296 315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162550
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a family of transcription factors containing a characteristic T-box DNA-binding domain. The encoded protein promotes expression of the pro-opiomelanocortin (POMC) gene, which is important for the differentiation of cells in the pituitary gland. [provided by RefSeq, Mar 2013]
PHENOTYPE: The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b C A 13: 96,420,733 E397D probably damaging Het
Arhgdia C A 11: 120,580,239 D45Y probably damaging Het
Dbn1 G T 13: 55,482,189 R147S probably damaging Het
Dip2a A T 10: 76,292,318 I36N probably damaging Het
Elmo1 A T 13: 20,582,323 K607* probably null Het
Epha6 T G 16: 60,425,111 I242L possibly damaging Het
Epha7 A G 4: 28,870,662 E313G possibly damaging Het
Frmd4b T A 6: 97,308,060 I347F probably damaging Het
Gucy2c T C 6: 136,765,614 K242R probably benign Het
Kif1c G T 11: 70,706,127 L313F probably damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Ncoa6 T A 2: 155,421,688 Q275H possibly damaging Het
Phf20l1 C A 15: 66,636,832 P820T probably benign Het
Robo2 T C 16: 73,973,777 T487A possibly damaging Het
Ryr2 G T 13: 11,585,478 L4614I possibly damaging Het
Tomm70a T C 16: 57,149,810 probably benign Het
Tsnaxip1 G T 8: 105,842,168 D430Y probably damaging Het
Uvssa G T 5: 33,408,848 G445V probably benign Het
Zfp628 C A 7: 4,920,806 L676I probably damaging Het
Zfp871 A G 17: 32,775,899 Y101H probably benign Het
Other mutations in Tbx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tbx19 APN 1 165160399 missense probably benign 0.05
IGL01545:Tbx19 APN 1 165139156 missense possibly damaging 0.77
IGL01893:Tbx19 APN 1 165140198 missense possibly damaging 0.93
IGL02451:Tbx19 APN 1 165140171 missense probably benign 0.03
IGL02514:Tbx19 APN 1 165153704 missense probably benign 0.15
R0009:Tbx19 UTSW 1 165160520 missense possibly damaging 0.93
R0009:Tbx19 UTSW 1 165160520 missense possibly damaging 0.93
R1600:Tbx19 UTSW 1 165142567 missense possibly damaging 0.52
R4605:Tbx19 UTSW 1 165153584 missense possibly damaging 0.87
R5410:Tbx19 UTSW 1 165160372 missense probably damaging 0.99
R5441:Tbx19 UTSW 1 165153680 missense probably damaging 0.99
R6814:Tbx19 UTSW 1 165147633 critical splice donor site probably null
R6822:Tbx19 UTSW 1 165140140 missense probably damaging 0.98
R6872:Tbx19 UTSW 1 165147633 critical splice donor site probably null
R7078:Tbx19 UTSW 1 165160566 start gained probably benign
R7711:Tbx19 UTSW 1 165139199 missense probably benign
Z1176:Tbx19 UTSW 1 165142507 missense probably damaging 0.99
Z1177:Tbx19 UTSW 1 165142574 missense probably benign 0.01
Posted On2012-12-06